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{{see also|X-linked intellectual disability}}
Theoretically, a mutation in any of the [[:Category:Genes on human chromosome X|genes on chromosome X]] may cause disease, but below are some notable ones, with short description of symptoms:
* [[Adrenoleukodystrophy]]; leads to progressive brain damage, failure of the adrenal glands, and eventually death.
* [[Alport syndrome]]; glomerulonephritis, endstage kidney disease, and hearing loss. A minority of Alport syndrome cases are due to an autosomal recessive mutation in the gene coding for [[type IV collagen]].
* [[Androgen insensitivity syndrome]]; variable degrees of undervirilization and/or infertility in XY persons of either sex
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* [[Centronuclear myopathy]]; where cell nuclei are abnormally located in skeletal muscle cells. In CNM the nuclei are located at a position in the center of the cell, instead of their normal ___location at the periphery.
* [[Charcot–Marie–Tooth disease|Charcot–Marie–Tooth disease (CMTX2-3)]]; disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in the advanced stages of disease.
* [[Coffin–Lowry syndrome]]; severe intellectual disability sometimes associated with abnormalities of growth, cardiac abnormalities, and kyphoscoliosis as well as auditory and visual abnormalities.
* [[Fabry disease]]; A lysosomal storage disease causing anhidrosis, fatigue, angiokeratomas, burning extremity pain, and ocular involvement.
* [[Hunter syndrome]]; potentially causing hearing loss, thickening of the heart valves leading to a decline in cardiac function, obstructive airway disease, sleep apnea, and enlargement of the liver and spleen.
* [[Hypohidrotic ectodermal dysplasia]], presenting with hypohidrosis, hypotrichosis, and hypodontia
* [[Kabuki syndrome]] (the ''[[KDM6A]]'' variant); multiple congenital anomalies and intellectual disability.
* [[Lesch–Nyhan syndrome]]; neurologic dysfunction, cognitive and behavioral disturbances including self-mutilation, and uric acid overproduction (hyperuricemia)
* [[Lowe syndrome]]; hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production, and vitamin D-resistant rickets
* [[Menkes disease]]; sparse and coarse hair, growth failure, and deterioration of the nervous system
* [[Nasodigitoacoustic syndrome]]; misshaped nose, [[brachydactyly]] of the [[distal phalanges]], sensorineural deafness
* [[Nonsyndromic deafness]]; hearing loss
* [[Norrie disease]]; cataracts
* [[Occipital horn syndrome]]; deformations in the skeleton
* [[Ocular albinism]]; lack of pigmentation in the eye
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* [[Wiskott–Aldrich syndrome]]; eczema, thrombocytopenia, immune deficiency, and bloody diarrhea
* [[X-linked severe combined immunodeficiency]] (SCID); infections, usually causing death in the first years of life
* [[X-linked sideroblastic anemia]]; skin paleness, fatigue, dizziness, and enlarged spleen and liver.
==See also==
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